A30T (p.Ala30Thr) variant of PLK1 (P53350)
A30T (p.Ala30Thr) in PLK1 (P53350) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- ExAC rs771030731
- TOPMed rs771030731
- gnomAD rs771030731
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.07
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.49
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available